Genetic variant link with long-term incidence of interstitial lung disease in rheumatoid arthritis.

[2greys]

European Alliance of Associations for Rheumatology

Rheumatoid arthritis (RA) is an inflammatory autoimmune disease that causes pain, swelling and stiffness in the joints. It can also cause fatigue, and the underlying inflammation may affect other body systems. Up to 10% of people with RA are affected by interstitial lung disease (ILD)during their lifetime, and ILD is oneof the leading causesof deathin patients with RA.Data presented at the 2021 EULAR congress report findings from a longitudinal study showing thatpeople withMUC5Bgenevariant have aconsiderable lifetime risk of ILD, andthat this gene variantcontributesto increased morbidity. These findings have clinical implications for improving identification of people with RAwho areat high risk for developing ILD.

The MUC5Bgene codes for mucin –a protein that is normally found in mucus secretions, andwhich ispart of the body’s natural defence against infection.The promoter variant called rs35705950is a common variant in the MUC5Bgene, with an allele frequency of 0.1 in the Finnish population. Overexpression of MUC5Bin lungs influences the development of pulmonary fibrosis.The promoter variant rs35705950 in MUC5Bis the strongest known genetic risk factor for rheumatoid arthritis-associated interstitial lung disease (RA-ILD). However, there are no large-scale data on the impact oftheMUC5Bpromoter variant on the long-term incidence of RA-ILD.

eular.org/sysModules/obxCon...

[Oshgosh]

That’s really informative.It really relates to my diseases.

[KJS15]

And also those who have genes for RA but not the symptoms. My father had severe RA from his early 30's. I have HP and tests show I have the RA genes but they have not triggered into forms of RA such as swelling and painful joints etc.

[dotw1 in reply to KJS15]

Hi . My mother had rheumatoid arthritis and my brother had interstitial lung disease but no RA symptoms. Could his ILD be genetically linked to his mother's RA ?

[2greys in reply to dotw1]

Given that genes are passed on, down generations, then that is a possibility.

[dotw1]

Thanks for your reply. So you say you can have the RA gene and no RA symptoms but carrying that gene can cause ILD? My brother died from ILD last week which consultant thought was idiopathic but could it have been immune?

[dotw1 in reply to dotw1]

sorry ...meant to say auto immune

[2greys in reply to dotw1]

That one I do not know, sorry.